Hypothesis

Five patients (Patients 1, 4, 5, 6, and 7) had transient urticaria on the trunk, face, arms, and legs during an infusion given during week 4 or later, and in four patients (Patients 1, 5, 6, and 7) it recurred during subsequent infusions beginning at or after week 20. During these episodes, urticaria began midway through an infusion but resolved soon after the infusion was completed. In the four patients with recurrent urticaria, the episodes eventually became less frequent and less severe and finally stopped. In three patients (Patients 1, 5, and 6), the urticaria was accompanied by angioedema (thickening of the tongue and tightening of the throat) on a total of nine occasions and by moderate transient hypoxemia on three occasions.

Case#: Patient #6, male, 22yo

DiseaseAssertion: MPS1, Hurler-Scheie Syndrome

FamilyInfo:

CasePresentingHPOs: HP:0033834, HP:0012378, HP:0001387, HP:0006536, HP:0002719, HP:0001433, HP:0001510, HP:0007957, HP:0010535, HP:0004749, HP:0002094, HP:0000969, HP:0003541, HP:0001537, HP:0000023

CaseHPOFreeText: NYHA class IV at beginning of therapy, cardiac valve disease

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: physical examination including history-taking, magnetic resonance imaging of the abdomen and brain, and range-of-motion measurements. Echocardiography and electrocardiography were performed at base line and at 12, 26, and 52 weeks. Corneal photographs were obtained and a skeletal survey was performed at base line and at weeks 26 and 52. A skin biopsy was performed at base line to establish cultures of fibroblasts for the determination of enzyme activity and genotyping. Biochemical studies included measurement of enzyme activity in leukocytes and brushings of buccal mucosa, urinary glycosaminoglycan excretion, and tests for serum antibodies to α-L-iduronidase.

GenotypingMethod:

PreviouslyPublished:

Variant: 236C>T, compound het with c.1727+2T>A (CA355965298)

ClinVar: 1458769

CAID:

gnomAD: n/a

SupplementalData:

CaseInfo Individual Variant:236C>T inferred_gene_hgnc:5391 inferred_gene_source:CAID UNC Biocuration Core

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